Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations

Objective: Ichthyosis is a clinically heterogeneous group of genodermatoses characterized by widespread drying and scaling of the skin. It is also a genetically heterogeneous disorder, and 67 genes associated with the disease have been identified to date. However, there are still undiscovered genes...

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Main Authors: Hanife SAAT, Ibrahim SAHIN, Neslihan DUZKALE, Muzeyyen GONUL, Taha BAHSI
Format: Article
Language:English
Published: Galenos Publishing House 2022-06-01
Series:Medeniyet Medical Journal
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Online Access:https://jag.journalagent.com/z4/download_fulltext.asp?pdir=medeniyet&un=MEDJ-39924
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author Hanife SAAT
Ibrahim SAHIN
Neslihan DUZKALE
Muzeyyen GONUL
Taha BAHSI
author_facet Hanife SAAT
Ibrahim SAHIN
Neslihan DUZKALE
Muzeyyen GONUL
Taha BAHSI
author_sort Hanife SAAT
collection DOAJ
description Objective: Ichthyosis is a clinically heterogeneous group of genodermatoses characterized by widespread drying and scaling of the skin. It is also a genetically heterogeneous disorder, and 67 genes associated with the disease have been identified to date. However, there are still undiscovered genes causing the disease. Methods: We investigated 19 Turkish patients from 17 unrelated families using clinical exome sequencing or multigene panel screening. Results: Sixteen likely pathogenic or pathogenic variants were detected in 13 unrelated patients. We identified 'variant of unknown significance' alteration in only one patient. Seven novel variants were identified in ABCA12, ALOX12B, and ALOXE3. The most commonly mutated gene was TGM1, followed by ABCA12 and ALOX12B. Conclusions: Because of the wide genetic variability of ichthyosis, it is difficult to diagnose the disease quickly and definitively. The clinical use of next-generation sequencing (NGS) methodologies is beneficial in the diagnostic approach to ichthyosis and genetic counseling. This study highlights the underlying molecular cause of ichthyosis by determining the mutational spectrum in a cohort of 19 patients. This study is the first and largest research from Turkey using NGS that highlights all ichthyosis subtypes.
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institution Kabale University
issn 2149-2042
2149-4606
language English
publishDate 2022-06-01
publisher Galenos Publishing House
record_format Article
series Medeniyet Medical Journal
spelling doaj-art-a86bb2982463454db65591825ce44cc22025-01-30T07:13:14ZengGalenos Publishing HouseMedeniyet Medical Journal2149-20422149-46062022-06-0137212613010.4274/MMJ.galenos.2022.39924MEDJ-39924Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel MutationsHanife SAAT0Ibrahim SAHIN1Neslihan DUZKALE2Muzeyyen GONUL3Taha BAHSI4University of Health Sciences Turkey, Diskapi Yildirim Beyazit Training and Research Hospital, Clinic of Medical Genetics, Ankara, TurkeyUniversity of Health Sciences Turkey, Diskapi Yildirim Beyazit Training and Research Hospital, Clinic of Medical Genetics, Ankara, TurkeyUniversity of Health Sciences Turkey, Diskapi Yildirim Beyazit Training and Research Hospital, Clinic of Medical Genetics, Ankara, TurkeyUniversity of Health Sciences Turkey, Diskapi Yildirim Beyazit Training and Research Hospital, Clinic of Dermatology, Ankara, TurkeyUniversity of Health Sciences Turkey, Dr. Abdurrahman Yurtaslan Ankara Oncology Training and Research Hospital, Clinic of Medical Genetics, Ankara, TurkeyObjective: Ichthyosis is a clinically heterogeneous group of genodermatoses characterized by widespread drying and scaling of the skin. It is also a genetically heterogeneous disorder, and 67 genes associated with the disease have been identified to date. However, there are still undiscovered genes causing the disease. Methods: We investigated 19 Turkish patients from 17 unrelated families using clinical exome sequencing or multigene panel screening. Results: Sixteen likely pathogenic or pathogenic variants were detected in 13 unrelated patients. We identified 'variant of unknown significance' alteration in only one patient. Seven novel variants were identified in ABCA12, ALOX12B, and ALOXE3. The most commonly mutated gene was TGM1, followed by ABCA12 and ALOX12B. Conclusions: Because of the wide genetic variability of ichthyosis, it is difficult to diagnose the disease quickly and definitively. The clinical use of next-generation sequencing (NGS) methodologies is beneficial in the diagnostic approach to ichthyosis and genetic counseling. This study highlights the underlying molecular cause of ichthyosis by determining the mutational spectrum in a cohort of 19 patients. This study is the first and largest research from Turkey using NGS that highlights all ichthyosis subtypes.https://jag.journalagent.com/z4/download_fulltext.asp?pdir=medeniyet&un=MEDJ-39924congenital ichthyosisarcimolecular diagnosisngs
spellingShingle Hanife SAAT
Ibrahim SAHIN
Neslihan DUZKALE
Muzeyyen GONUL
Taha BAHSI
Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations
Medeniyet Medical Journal
congenital ichthyosis
arci
molecular diagnosis
ngs
title Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations
title_full Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations
title_fullStr Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations
title_full_unstemmed Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations
title_short Genetic Etiology of Ichthyosis in Turkish Patients: Next-generation Sequencing Identified Seven Novel Mutations
title_sort genetic etiology of ichthyosis in turkish patients next generation sequencing identified seven novel mutations
topic congenital ichthyosis
arci
molecular diagnosis
ngs
url https://jag.journalagent.com/z4/download_fulltext.asp?pdir=medeniyet&un=MEDJ-39924
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AT neslihanduzkale geneticetiologyofichthyosisinturkishpatientsnextgenerationsequencingidentifiedsevennovelmutations
AT muzeyyengonul geneticetiologyofichthyosisinturkishpatientsnextgenerationsequencingidentifiedsevennovelmutations
AT tahabahsi geneticetiologyofichthyosisinturkishpatientsnextgenerationsequencingidentifiedsevennovelmutations